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NM_052867.4:c.3056dupT
Home
NM_052867.4:c.3056dupT
HGVS Expressions
NG_053176.1:g.319034dupT
NM_052867.4:c.3056dupT
NP_443099.1:p.Leu1019Phefs
NC_000013.11:g.101103179dup
Associated Genes
Sodium Leak Channel, Nonselective
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Clinvar Clinical Significance
Pathogenic
CTGA Clinical Significance
Likely Pathogenic, Pathogenic
Variant Type
Duplication
dbSNP
772394714
Clinvar
684701
Epidemiology in the Arab World
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Lebanon
Subject ID
Country of Origin
Allele Count
Allele Frequency
CTGA Clinical Significance
Condition(s)
Reference
Remarks
615419.1
Lebanon
2
Likely Pathogenic
Hypotonia, Infantile, with Psychomotor Retardation and characteristic Facies 1
Nair et al. 2018
615419.4.1
Lebanon
2
Pathogenic
Hypotonia, Infantile, with Psychomotor Retardation and characteristic Facies 1
Bramswig et al. 2018
One sibling and two cousins similarly af...
615419.4.2
Lebanon
2
Pathogenic
Hypotonia, Infantile, with Psychomotor Retardation and characteristic Facies 1
Bramswig et al. 2018
Sibling of 615419.4.1
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Contributors
Pratibha Nair: 20.04.2020
Edit History
Pratibha Nair: 22.11.2022
Sami Bizzari: 30.05.2021
Pratibha Nair: 29.09.2020
Pratibha Nair: 20.04.2020
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Arab Countries with reported incidence
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